Hasil Pencarian - Stacey Gabriel

Perbaiki Hasil
  1. 1
    O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*

    O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chro... oleh Fabiola Quintero-Rivera, Yulia Mostovoy, Philip Boone, Steve Huang, Kiran Garimella, Julian Martinez-Agosto, Bianca Russell, Tera Bowers, Tim De Smet, Stacey Gabriel, James Gusella, Harrison Brand, Michael Talkowski

    Diterbitkan 2023-01-01
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  2. 2
    Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

    Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms oleh Maura Costello, Mark Fleharty, Justin Abreu, Yossi Farjoun, Steven Ferriera, Laurie Holmes, Brian Granger, Lisa Green, Tom Howd, Tamara Mason, Gina Vicente, Michael Dasilva, Wendy Brodeur, Timothy DeSmet, Sheila Dodge, Niall J. Lennon, Stacey Gabriel

    Diterbitkan 2018-05-01
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  3. 3
    Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

    Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. oleh Aenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiss, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S Lander, Stacey Gabriel, Daniel J Rader, Gina M Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz

    Diterbitkan 2015-02-01
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  4. 4
    Evaluation of the Access Bio CareStart rapid SARS-CoV-2 antigen test in asymptomatic individuals tested at a community mass-testing program in Western Massachusetts

    Evaluation of the Access Bio CareStart rapid SARS-CoV-2 antigen test in asymptomatic individuals tested at a community mass-testing program in Western Massachusetts oleh Sara Suliman, Wilfredo R. Matias, Isabel R. Fulcher, Francisco J. Molano, Shannon Collins, Elizabeth Uceta, Jack Zhu, Ryan M. Paxton, Sean F. Gonsalves, Maegan V. Harden, Marissa Fisher, Jim Meldrim, Stacey Gabriel, Molly F. Franke, Deborah T. Hung, Sandra C. Smole, Lawrence C. Madoff, Louise C. Ivers

    Diterbitkan 2022-12-01
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  5. 5
    O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)

    O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) oleh Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski

    Diterbitkan 2024-01-01
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  6. 6
    Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

    Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program oleh Eric Venner, Donna Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger A. Metcalf, Chris Kachulis, The All of Us Research Program Regulatory Working Group, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah Nickerson, Alicia Y. Zhou, Kimberly Doheny, Bradley Ozenberger, Scott E. Topper, Niall J. Lennon

    Diterbitkan 2022-03-01
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  7. 7
    Accounting for population structure in genetic studies of cystic fibrosis

    Accounting for population structure in genetic studies of cystic fibrosis oleh Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue

    Diterbitkan 2022-07-01
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  8. 8
    Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study

    Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study oleh Heming Wang, Nuzulul Kurniansyah, Brian E. Cade, Matthew O. Goodman, Han Chen, Daniel J. Gottlieb, Sina A. Gharib, Shaun M. Purcell, Xihong Lin, Richa Saxena, Xiaofeng Zhu, Peter Durda, Russel Tracy, Yongmei Liu, Kent D. Taylor, W. Craig Johnson, Stacey Gabriel, Joshua D. Smith, François Aguet, Kirstin Ardlie, Tom Blackwell, Alexander P. Reiner, Jerome I. Rotter, Stephen S. Rich, TOPMed Sleep Traits Working Group, Susan Redline, Tamar Sofer

    Diterbitkan 2022-01-01
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  9. 9
    Genetic mapping and exome sequencing identify variants associated with five novel diseases.

    Genetic mapping and exome sequencing identify variants associated with five novel diseases. oleh Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss

    Diterbitkan 2012-01-01
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  10. 10
    Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

    Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. oleh Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Elaine Lim, Corneliu A Bodea, Donna Muzny, Jeffrey G Reid, Eric Banks, Hillary Coon, Mark Depristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Bernie Devlin, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly, Richard A Gibbs, Kathryn Roeder

    Diterbitkan 2013-04-01
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  11. 11
    A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

    A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. oleh Connor A Emdin, Mary E Haas, Amit V Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program, Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan

    Diterbitkan 2020-04-01
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  12. 12
    Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain.

    Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. oleh Jeffrey C Lee, Igor Vivanco, Rameen Beroukhim, Julie H Y Huang, Whei L Feng, Ralph M DeBiasi, Koji Yoshimoto, Jennifer C King, Phioanh Nghiemphu, Yuki Yuza, Qing Xu, Heidi Greulich, Roman K Thomas, J Guillermo Paez, Timothy C Peck, David J Linhart, Karen A Glatt, Gad Getz, Robert Onofrio, Liuda Ziaugra, Ross L Levine, Stacey Gabriel, Tomohiro Kawaguchi, Keith O'Neill, Haumith Khan, Linda M Liau, Stanley F Nelson, P Nagesh Rao, Paul Mischel, Russell O Pieper, Tim Cloughesy, Daniel J Leahy, William R Sellers, Charles L Sawyers, Matthew Meyerson, Ingo K Mellinghoff

    Diterbitkan 2006-12-01
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  13. 13
    Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

    Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. oleh Connor A Emdin, Mary E Haas, Amit V Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program, Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan

    Diterbitkan 2021-04-01
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  14. 14
    The functional impact of rare variation across the regulatory cascade

    The functional impact of rare variation across the regulatory cascade oleh Taibo Li, Nicole Ferraro, Benjamin J. Strober, Francois Aguet, Silva Kasela, Marios Arvanitis, Bohan Ni, Laurens Wiel, Elliot Hershberg, Kristin Ardlie, Dan E. Arking, Rebecca L. Beer, Jennifer Brody, Thomas W. Blackwell, Clary Clish, Stacey Gabriel, Robert Gerszten, Xiuqing Guo, Namrata Gupta, W. Craig Johnson, Tuuli Lappalainen, Henry J. Lin, Yongmei Liu, Deborah A. Nickerson, George Papanicolaou, Jonathan K. Pritchard, Pankaj Qasba, Ali Shojaie, Josh Smith, Nona Sotoodehnia, Kent D. Taylor, Russell P. Tracy, David Van Den Berg, Matthew T. Wheeler, Stephen S. Rich, Jerome I. Rotter, Alexis Battle, Stephen B. Montgomery

    Diterbitkan 2023-10-01
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  15. 15
    Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition

    Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition oleh Jan A. Burger, Dan A. Landau, Amaro Taylor-Weiner, Ivana Bozic, Huidan Zhang, Kristopher Sarosiek, Lili Wang, Chip Stewart, Jean Fan, Julia Hoellenriegel, Mariela Sivina, Adrian M. Dubuc, Cameron Fraser, Yulong Han, Shuqiang Li, Kenneth J. Livak, Lihua Zou, Youzhong Wan, Sergej Konoplev, Carrie Sougnez, Jennifer R. Brown, Lynne V. Abruzzo, Scott L. Carter, Michael J. Keating, Matthew S. Davids, William G. Wierda, Kristian Cibulskis, Thorsten Zenz, Lillian Werner, Paola Dal Cin, Peter Kharchencko, Donna Neuberg, Hagop Kantarjian, Eric Lander, Stacey Gabriel, Susan O’Brien, Anthony Letai, David A. Weitz, Martin A. Nowak, Gad Getz, Catherine J. Wu

    Diterbitkan 2016-05-01
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  16. 16
    Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

    Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease oleh Connor A. Emdin, Amit V. Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M. Zekavat, Akihiro Nomura, Diego Ardissino, James G. Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J. Bown, Nilesh J. Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H. Lichtman, Gail D’Onofrio, Jennifer Mattera, John A. Spertus, Wayne H.-H. Sheu, Kent D. Taylor, Bruce M. Psaty, Stephen S. Rich, Wendy Post, Jerome I. Rotter, Yii-Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan

    Diterbitkan 2018-04-01
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  17. 17
    Distribution and medical impact of loss-of-function variants in the Finnish founder population.

    Distribution and medical impact of loss-of-function variants in the Finnish founder population. oleh Elaine T Lim, Peter Würtz, Aki S Havulinna, Priit Palta, Taru Tukiainen, Karola Rehnström, Tõnu Esko, Reedik Mägi, Michael Inouye, Tuuli Lappalainen, Yingleong Chan, Rany M Salem, Monkol Lek, Jason Flannick, Xueling Sim, Alisa Manning, Claes Ladenvall, Suzannah Bumpstead, Eija Hämäläinen, Kristiina Aalto, Mikael Maksimow, Marko Salmi, Stefan Blankenberg, Diego Ardissino, Svati Shah, Benjamin Horne, Ruth McPherson, Gerald K Hovingh, Muredach P Reilly, Hugh Watkins, Anuj Goel, Martin Farrall, Domenico Girelli, Alex P Reiner, Nathan O Stitziel, Sekar Kathiresan, Stacey Gabriel, Jeffrey C Barrett, Terho Lehtimäki, Markku Laakso, Leif Groop, Jaakko Kaprio, Markus Perola, Mark I McCarthy, Michael Boehnke, David M Altshuler, Cecilia M Lindgren, Joel N Hirschhorn, Andres Metspalu, Nelson B Freimer, Tanja Zeller, Sirpa Jalkanen, Seppo Koskinen, Olli Raitakari, Richard Durbin, Daniel G MacArthur, Veikko Salomaa, Samuli Ripatti, Mark J Daly, Aarno Palotie, Sequencing Initiative Suomi (SISu) Project

    Diterbitkan 2014-07-01
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  18. 18
    Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

    Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants oleh Xutong Zhao, Dandi Qiao, Chaojie Yang, Silva Kasela, Wonji Kim, Yanlin Ma, Nick Shrine, Chiara Batini, Tamar Sofer, Sarah A. Gagliano Taliun, Phuwanat Sakornsakolpat, Pallavi P. Balte, Dmitry Prokopenko, Bing Yu, Leslie A. Lange, Josée Dupuis, Brian E. Cade, Jiwon Lee, Sina A. Gharib, Michelle Daya, Cecelia A. Laurie, Ingo Ruczinski, L. Adrienne Cupples, Laura R. Loehr, Traci M. Bartz, Alanna C. Morrison, Bruce M. Psaty, Ramachandran S. Vasan, James G. Wilson, Kent D. Taylor, Peter Durda, W. Craig Johnson, Elaine Cornell, Xiuqing Guo, Yongmei Liu, Russell P. Tracy, Kristin G. Ardlie, François Aguet, David J. VanDenBerg, George J. Papanicolaou, Jerome I. Rotter, Kathleen C. Barnes, Deepti Jain, Deborah A. Nickerson, Donna M. Muzny, Ginger A. Metcalf, Harshavardhan Doddapaneni, Shannon Dugan-Perez, Namrata Gupta, Stacey Gabriel, Stephen S. Rich, George T. O’Connor, Susan Redline, Robert M. Reed, Cathy C. Laurie, Martha L. Daviglus, Liana K. Preudhomme, Kristin M. Burkart, Robert C. Kaplan, Louise V. Wain, Martin D. Tobin, Stephanie J. London, Tuuli Lappalainen, Elizabeth C. Oelsner, Goncalo R. Abecasis, Edwin K. Silverman, R. Graham Barr, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lung Working Group, Michael H. Cho, Ani Manichaikul

    Diterbitkan 2020-10-01
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  19. 19
    Whole genome sequence analysis of blood lipid levels in >66,000 individuals

    Whole genome sequence analysis of blood lipid levels in >66,000 individuals oleh Margaret Sunitha Selvaraj, Xihao Li, Zilin Li, Akhil Pampana, David Y. Zhang, Joseph Park, Stella Aslibekyan, Joshua C. Bis, Jennifer A. Brody, Brian E. Cade, Lee-Ming Chuang, Ren-Hua Chung, Joanne E. Curran, Lisa de las Fuentes, Paul S. de Vries, Ravindranath Duggirala, Barry I. Freedman, Mariaelisa Graff, Xiuqing Guo, Nancy Heard-Costa, Bertha Hidalgo, Chii-Min Hwu, Marguerite R. Irvin, Tanika N. Kelly, Brian G. Kral, Leslie Lange, Xiaohui Li, Martin Lisa, Steven A. Lubitz, Ani W. Manichaikul, Preuss Michael, May E. Montasser, Alanna C. Morrison, Take Naseri, Jeffrey R. O’Connell, Nicholette D. Palmer, Patricia A. Peyser, Muagututia S. Reupena, Jennifer A. Smith, Xiao Sun, Kent D. Taylor, Russell P. Tracy, Michael Y. Tsai, Zhe Wang, Yuxuan Wang, Wei Bao, John T. Wilkins, Lisa R. Yanek, Wei Zhao, Donna K. Arnett, John Blangero, Eric Boerwinkle, Donald W. Bowden, Yii-Der Ida Chen, Adolfo Correa, L. Adrienne Cupples, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Jiang He, Robert C. Kaplan, Sharon L. R. Kardia, Ryan Kim, Charles Kooperberg, Ruth J. F. Loos, Karine A Viaud-Martinez, Rasika A. Mathias, Stephen T. McGarvey, Braxton D. Mitchell, Deborah Nickerson, Kari E. North, Bruce M. Psaty, Susan Redline, Alexander P. Reiner, Ramachandran S. Vasan, Stephen S. Rich, Cristen Willer, Jerome I. Rotter, Daniel J. Rader, Xihong Lin, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Gina M. Peloso, Pradeep Natarajan

    Diterbitkan 2022-10-01
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  20. 20
    Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

    Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. oleh Anubha Mahajan, Xueling Sim, Hui Jin Ng, Alisa Manning, Manuel A Rivas, Heather M Highland, Adam E Locke, Niels Grarup, Hae Kyung Im, Pablo Cingolani, Jason Flannick, Pierre Fontanillas, Christian Fuchsberger, Kyle J Gaulton, Tanya M Teslovich, N William Rayner, Neil R Robertson, Nicola L Beer, Jana K Rundle, Jette Bork-Jensen, Claes Ladenvall, Christine Blancher, David Buck, Gemma Buck, Noël P Burtt, Stacey Gabriel, Anette P Gjesing, Christopher J Groves, Mette Hollensted, Jeroen R Huyghe, Anne U Jackson, Goo Jun, Johanne Marie Justesen, Massimo Mangino, Jacquelyn Murphy, Matt Neville, Robert Onofrio, Kerrin S Small, Heather M Stringham, Ann-Christine Syvänen, Joseph Trakalo, Goncalo Abecasis, Graeme I Bell, John Blangero, Nancy J Cox, Ravindranath Duggirala, Craig L Hanis, Mark Seielstad, James G Wilson, Cramer Christensen, Ivan Brandslund, Rainer Rauramaa, Gabriela L Surdulescu, Alex S F Doney, Lars Lannfelt, Allan Linneberg, Bo Isomaa, Tiinamaija Tuomi, Marit E Jørgensen, Torben Jørgensen, Johanna Kuusisto, Matti Uusitupa, Veikko Salomaa, Timothy D Spector, Andrew D Morris, Colin N A Palmer, Francis S Collins, Karen L Mohlke, Richard N Bergman, Erik Ingelsson, Lars Lind, Jaakko Tuomilehto, Torben Hansen, Richard M Watanabe, Inga Prokopenko, Josee Dupuis, Fredrik Karpe, Leif Groop, Markku Laakso, Oluf Pedersen, Jose C Florez, Andrew P Morris, David Altshuler, James B Meigs, Michael Boehnke, Mark I McCarthy, Cecilia M Lindgren, Anna L Gloyn, T2D-GENES consortium and GoT2D consortium

    Diterbitkan 2015-01-01
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